A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383023



Internal ID15229994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68220553..68229814hg38UCSC Ensembl
Innerchr9:68221516..68228814hg38UCSC Ensembl
Outerchr9:68220553..68230814hg38UCSC Ensembl
chr9:70835469..70844730hg19UCSC Ensembl
Innerchr9:70836432..70843730hg19UCSC Ensembl
Outerchr9:70835469..70845730hg19UCSC Ensembl
chr9:70025252..70034550hg18UCSC Ensembl
Innerchr9:70026252..70033550hg18UCSC Ensembl
Outerchr9:70024252..70035550hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg389262
hg199262
hg189299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697367
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383023
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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